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One-hundred-sixty single-fiber EMG studies of the extensor digitorum communis muscle were performed on 127 patients with myasthenia gravis; 131 demonstrated defective neuromuscular transmission.
Using gene-targeted mice deficient in RhoH, we have previously demonstrated defective thymocyte development, positive and negative selection and TCR signaling.
Two ACE chimeras were generated by substituting regions of the C domain with corresponding N domain sequences which also demonstrated defective intracellular processing, were enzymatically inactive, and did not localize to the cell surface [42].
For example, the fact that 18% of patients waited more than an hour before mammography and ultrasound demonstrated defective organization.
Several studies have demonstrated defective macrophage and DC migration and adhesion, and more recent studies also suggest impaired trafficking of T and B cells as well as neutrophils.
This finding is consistent with a previous study that demonstrated defective expression of TGF-β signal transduction molecules in most SLE patients [ 40].
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In the liver, there was a concomitant reduced expression of glucose-6-phosphatase mRNA and glucose production from pyruvate (pyruvate tolerance test), demonstrating defective hepatic gluconeogenesis as a cause for the T. cruzi-induced hypoglycemia, despite reduced insulin, but elevated glucagon levels.
We previously reported that Rhoh-/ T cells demonstrate defective CD3ζ phosphorylation and ZAP-70 recruitment to the TCR complex which results in the impaired TCR signaling and T cell development[3].
We could also demonstrate defective mycobacterial association with Clecsf8−/− thioglycollate-elicited macrophages and neutrophils in vitro.
Without SCFβTrCP, T cells demonstrate defective IκBα degradation and reduced NFκB activation [ 14].
Patients with SLE demonstrate defective clearance of apoptotic cells, which evokes a secondary transition into necrotic cell death [ 10].
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